CCNE1 cyclin E1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCNE1provided by HGNC
Official Full Name: cyclin E1provided by HGNC
Primary source: HGNC:HGNC:1589
See related: Ensembl:ENSG00000105173 MIM:123837; AllianceGenome:HGNC:1589
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CCNE; pCCNE1
Summary: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016]
Expression: Biased expression in placenta (RPKM 16.5), bone marrow (RPKM 11.3) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (29811991..29824312)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (32337722..32350035)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (30302898..30315219)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular Landscape and Clinical Implication of CCNE1-amplified Esophagogastric Cancer.
Title: Molecular Landscape and Clinical Implication of CCNE1-amplified Esophagogastric Cancer.
Copy number signatures and CCNE1 amplification reveal the involvement of replication stress in high-grade endometrial tumors oncogenesis.
Title: Copy number signatures and CCNE1 amplification reveal the involvement of replication stress in high-grade endometrial tumors oncogenesis.
hsa-miR-CHA2, a novel microRNA, exhibits anticancer effects by suppressing cyclin E1 in human non-small cell lung cancer cells.
Title: hsa-miR-CHA2, a novel microRNA, exhibits anticancer effects by suppressing cyclin E1 in human non-small cell lung cancer cells.
RAD52-dependent mitotic DNA synthesis is required for genome stability in Cyclin E1-overexpressing cells.
Title: RAD52-dependent mitotic DNA synthesis is required for genome stability in Cyclin E1-overexpressing cells.
PPM1D activity promotes the replication stress caused by cyclin E1 overexpression.
Title: PPM1D activity promotes the replication stress caused by cyclin E1 overexpression.
LncRNA EILA promotes CDK4/6 inhibitor resistance in breast cancer by stabilizing cyclin E1 protein.
Title: LncRNA EILA promotes CDK4/6 inhibitor resistance in breast cancer by stabilizing cyclin E1 protein.
PKMYT1: A Potential Target for CCNE1 Amplificated Colorectal Tumors.
Title: PKMYT1: A Potential Target for CCNE1 Amplificated Colorectal Tumors.
Long noncoding RNA LINC02568 sequesters microRNA-874-3p to facilitate malignancy in breast cancer cells via cyclin E1 overexpression.
Title: Long noncoding RNA LINC02568 sequesters microRNA-874-3p to facilitate malignancy in breast cancer cells via cyclin E1 overexpression.
PTEN Deficiency in Tubo-Ovarian High-Grade Serous Carcinoma is Associated with Poor Progression-Free Survival and is Mutually Exclusive with CCNE1 Amplification.
Title: PTEN Deficiency in Tubo-Ovarian High-Grade Serous Carcinoma is Associated with Poor Progression-Free Survival and is Mutually Exclusive with CCNE1 Amplification.
N6-methyladenosine reader YTHDF2 promotes multiple myeloma cell proliferation through EGR1/p21[cip1/waf1]/CDK2-Cyclin E1 axis-mediated cell cycle transition.
Title: N6-methyladenosine reader YTHDF2 promotes multiple myeloma cell proliferation through EGR1/p21(cip1/waf1)/CDK2-Cyclin E1 axis-mediated cell cycle transition.

Submit: New GeneRIF Correction See all GeneRIFs (288)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci associated with bladder cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	The V3 loop of HIV-1 gp120 induces G1 arrest in IL-2-dependent cell cycle progression by reducing cyclin E expression and phosphorylation of retinoblastoma protein (pRb)	PubMed
Nef	nef	HIV-1 Nef induces the downregulation of cyclin E expression in podocytes	PubMed
Tat	tat	HIV-1 Tat 41/44 peptide TAALS from the core domain of Tat inhibits Tat-mediated HIV-1 gene expression and replication by binding the Cdk2/Cyclin E complex and inhibiting the phosphorylation of serine 5 of RNAPII	PubMed
	tat	Cdk2/cyclin E stimulates Tat-dependent HIV-1 transcription	PubMed
	tat	HIV-1 Tat induces Cyclin E-associated cdk activity in lymphocytes, indicating Tat drives cells to the late G1 phase of the cell cycle	PubMed
	tat	HIV-1 Tat induces a G1 arrest in cells of glial origin, leading to a downregulation of cyclin E-Cdk2 kinase activity and phosphorylation of Rb	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC341775P1 (e-PCR)
- UniSTS:273183

RH80073 (e-PCR)
- UniSTS:86600

PMC133799P2 (e-PCR)
- UniSTS:270665

RH65121 (e-PCR)
- UniSTS:6879

CCNE1 (e-PCR)
- UniSTS:480237

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cyclin-dependent protein serine/threonine kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA replication initiation	IEA Inferred from Electronic Annotation more info
involved_in G1/S transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in G1/S transition of mitotic cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in homologous chromosome pairing at meiosis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of mesenchymal stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of cyclin E1-CDK2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of cyclin E1-CDK2 complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: G1/S-specific cyclin-E1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001238.4 → NP_001229.1 G1/S-specific cyclin-E1 isoform 1

See identical proteins and their annotated locations for NP_001229.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as cyclin EL) encodes isoform 1, also known as isoform E1L.

Source sequence(s)

AC008798, AK291549, BC035498, BQ018270

Consensus CDS

CCDS12419.1

UniProtKB/Swiss-Prot

A8K684, P24864, Q14091, Q8NFG1, Q92501, Q9UD21

UniProtKB/TrEMBL

C9J2U0, V5W643

Related

ENSP00000262643.3, ENST00000262643.8

Conserved Domains (2) summary

pfam00134
Location:115 → 242

Cyclin_N; Cyclin, N-terminal domain

pfam02984
Location:245 → 363

Cyclin_C; Cyclin, C-terminal domain
NM_001322259.2 → NP_001309188.1 G1/S-specific cyclin-E1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as cyclin ET) encodes isoform 3.

Source sequence(s)

AC008798, BQ018270, KF672848, KR134287

UniProtKB/TrEMBL

A0A0G3DHS8, C9J2U0, V5W643

Related

ENSP00000350625.6, ENST00000357943.9

Conserved Domains (2) summary

cd20579
Location:103 → 238

CYCLIN_CCNE1_rpt1; first cyclin box found in G1/S-specific cyclin-E1 (CCNE1)

cl40454
Location:233 → 311

CYCLIN_SF; Cyclin box fold superfamily
NM_001322261.2 → NP_001309190.1 G1/S-specific cyclin-E1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as cyclin Es or variant ex5del) encodes isoform 4.

Source sequence(s)

AC008798, BQ018270, KF672848

UniProtKB/TrEMBL

C9J2U0, V5W5X2, V5W643

Conserved Domains (2) summary

pfam00134
Location:115 → 193

Cyclin_N; Cyclin, N-terminal domain

pfam02984
Location:196 → 314

Cyclin_C; Cyclin, C-terminal domain
NM_001322262.2 → NP_001309191.1 G1/S-specific cyclin-E1 isoform 5

Status: REVIEWED

Source sequence(s)

AC008798, AK291549, BQ018270

Consensus CDS

CCDS46035.1

UniProtKB/TrEMBL

C9J2U0, V5W643

Related

ENSP00000410179.2, ENST00000444983.6

Conserved Domains (2) summary

pfam00134
Location:100 → 227

Cyclin_N; Cyclin, N-terminal domain

pfam02984
Location:230 → 348

Cyclin_C; Cyclin, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

29811991..29824312

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527440.3 → XP_011525742.1 G1/S-specific cyclin-E1 isoform X1

UniProtKB/TrEMBL

C9J2U0, V5W643

Conserved Domains (2) summary

pfam00134
Location:112 → 239

Cyclin_N; Cyclin, N-terminal domain

pfam02984
Location:242 → 360

Cyclin_C; Cyclin, C-terminal domain
XM_047439606.1 → XP_047295562.1 G1/S-specific cyclin-E1 isoform X2